Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
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| Gene |
Allelic Consistency |
Phenotypic Consistency |
Penetrance |
Ethnic Diversity |
Inheritance Consistency |
Mechanism of disease |
Actions |
|
TTC19
(HGNC:26006)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
RETREG1
(HGNC:25964)
|
Moderate
|
Weak
|
Moderate
|
Weak
|
Strong
|
Strong
|
|
|
SRD5A3
(HGNC:25812)
|
Strong
|
Moderate
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
ABRAXAS1
(HGNC:25829)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
CLIP2
(HGNC:2586)
|
Weak
|
Weak
|
Weak
|
Weak
|
Weak
|
Moderate
|
|
|
ORAI1
(HGNC:25896)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Weak
|
Moderate
|
|
|
WDR73
(HGNC:25928)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
ADK
(HGNC:257)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
DCAF17
(HGNC:25784)
|
Strong
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
USB1
(HGNC:25792)
|
Moderate
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
REEP1
(HGNC:25786)
|
Weak
|
Weak
|
Weak
|
Strong
|
Weak
|
Moderate
|
|
|
NHEJ1
(HGNC:25737)
|
Moderate
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
|
|
TRAPPC11
(HGNC:25751)
|
Weak
|
Weak
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
PGAP1
(HGNC:25712)
|
Moderate
|
Weak
|
Strong
|
Moderate
|
Strong
|
Strong
|
|
|
CARS2
(HGNC:25695)
|
Moderate
|
Weak
|
Strong
|
Weak
|
Strong
|
Strong
|
|
|
CYB5A
(HGNC:2570)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Moderate
|
Strong
|
|
|
GORAB
(HGNC:25676)
|
Weak
|
Moderate
|
Strong
|
Strong
|
Strong
|
Strong
|
|
|
MAMLD1
(HGNC:2568)
|
Weak
|
Weak
|
Strong
|
Moderate
|
Strong
|
Moderate
|
|
|
RNASEH2B
(HGNC:25671)
|
Moderate
|
Moderate
|
Moderate
|
Weak
|
Weak
|
Moderate
|
|
|
TTC21B
(HGNC:25660)
|
Moderate
|
Weak
|
Moderate
|
Strong
|
Moderate
|
Strong
|
|